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    Nat Genet. 2011 Jun 19;43(7):699-705. doi: 10.1038/ng.859.

    Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy.

    Höglinger GU, Melhem NM, Dickson DW, Sleiman PM, Wang LS, Klei L, Rademakers R, de Silva R, Litvan I, Riley DE, van Swieten JC, Heutink P, Wszolek ZK, Uitti RJ, Vandrovcova J, Hurtig HI, Gross RG, Maetzler W, Goldwurm S, Tolosa E, Borroni B, Pastor P; PSP Genetics Study Group, Cantwell LB, Han MR, Dillman A, van der Brug MP, Gibbs JR, Cookson MR, Hernandez DG, Singleton AB, Farrer MJ, Yu CE, Golbe LI, Revesz T, Hardy J, Lees AJ, Devlin B, Hakonarson H, Müller U, Schellenberg GD.

    Collaborators (97)

    Albin RL, Alonso E, Antonini A, Apfelbacher M, Arnold SE, Avila J, Beach TG, Beecher S, Berg D, Bird TD, Bogdanovic N, Boon AJ, Bordelon Y, Brice A, Budka H, Canesi M, Chiu WZ, Cilia R, Colosimo C, De Deyn PP, García de Yebenes J, Donker Kaat L, Duara R, Durr A, Engelborghs S, Fabbrini G, Finch NA, Flook R, Frosch MP, Gaig C, Galasko DR, Gasser T, Gearing M, Geller ET, Ghetti B, Graff NR, Grossman M, Hall DA, Hazrati LN, Höllerhage M, Jankovic J, Juncos JL, Karydas A, Kretzschmar HA, Leber I, Lee VM, Lieberman AP, Lyons KE, Mariani C, Masliah E, Massey LA, McLean CA, Meucci N, Miller BL, Mollenhauer B, Möller JC, Morris HR, Morris C, O'Sullivan SS, Oertel WH, Ottaviani D, Padovani A, Pahwa R, Pezzoli G, Pickering-Brown S, Poewe W, Rabano A, Rajput A, Reich SG, Respondek G, Roeber S, Rohrer JD, Ross OA, Rossor MN, Sacilotto G, Seeley WW, Seppi K, Silveira-Moriyama L, Spina S, Srulijes K, St George-Hyslop P, Stamelou M, Standaert DG, Tesei S, Tourtellotte WW, Trenkwalder C, Troakes C, Trojanowski JQ, Troncoso JC, Van Deerlin VM, Paul J, Vonsattel G, Wenning GK, White CL, Winter P, Zarow C, Zecchinelli AL.

    Source

    Department of Neurology, Philipps-Universität, Marburg, Germany.

    Abstract

    Progressive supranuclear palsy (PSP) is a movement disorder with prominent tau neuropathology. Brain diseases with abnormal tau deposits are called tauopathies, the most common of which is Alzheimer's disease. Environmental causes of tauopathies include repetitive head trauma associated with some sports. To identify common genetic variation contributing to risk for tauopathies, we carried out a genome-wide association study of 1,114 individuals with PSP (cases) and 3,247 controls (stage 1) followed by a second stage in which we genotyped 1,051 cases and 3,560 controls for the stage 1 SNPs that yielded P ≤ 10(-3). We found significant previously unidentified signals (P < 5 × 10(-8)) associated with PSP risk at STX6, EIF2AK3 and MOBP. We confirmed two independent variants in MAPT affecting risk for PSP, one of which influences MAPT brain expression. The genes implicated encode proteins for vesicle-membrane fusion at the Golgi-endosomal interface, for the endoplasmic reticulum unfolded protein response and for a myelin structural component.

    PMID:
    21685912
    [PubMed - indexed for MEDLINE]
    PMCID:
    PMC3125476
    Free PMC Article

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